Optic nerve hypoplasia, 165550, Autosomal dominant (Isolated optic nerve hypoplasia) … see more Optic nerve hypoplasia, 165550, Autosomal dominant (Isolated optic nerve hypoplasia) (MLPA)  see less
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000578393.1
INHERITED DISEASECANCEROPHTHALMOLOGY ... View more
Last updated in GTR: 2020-05-19
Last annual review date for the lab: 2022-05-14 Past due LinkOut
At a Glance
Diagnosis
Isolated optic nerve hypoplasia
Genes (1): Help
PAX6 (11p13)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Optic nerve hypoplasia, 165550, Autosomal dominant (diagnosis/ clinical suspition/ etiology …
Not provided
Not provided
Ordering Information
Offered by: Help
Test Order Code: Help
11797
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Optic nerve hypoplasia, 165550, Autosomal dominant (diagnosis/ clinical suspition/ etiology investigation/ classification)
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
MLPA has greater than 99% sensitive for detecting deletion and duplication variants in case of more than one prob is in the affected area. Sensitivity reduces to 95% for the CNV's detected just one prob. Copy number changes detected by only a single probe always require validation by another method.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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